Varaico: Literature-Extracted Genetic Variants

KDM5D

57 papers

RefSeq Summary

This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a f...

Pfam Domains

JmjNaa 15–48UCSCjmjN domain

ARIDaa 81–165UCSCARID/BRIGHT DNA binding domain

PHDaa 317–361UCSCPHD-finger

JmjCaa 491–607UCSCJmjC domain, hydroxylase

KDM5_C-helaa 611–665UCSCLysine-specific demethylase 5, C-terminal helical domain

zf-C5HC2aa 697–749UCSCC5HC2 zinc finger

Gene Aliases

HGNC Name

lysine demethylase 5D

HGNC Previous Symbols

HYA; HY; SMCY; JARID1D

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004653.5

p.E18D

c.54G>C

Surrounding Variants

1 paper

NM_004653.5

p.E18D

c.54G>T

1 paper

NM_004653.5

p.D26V

c.77A>T

1 paper

NM_004653.5

p.L28F

c.82C>T

1 paper

NM_004653.5

p.R68insFs

c.202_203insC

2 papers

NM_004653.5

p.L75L

c.223C>T

1 paper

NM_004653.5

p.A77T

c.229G>A

2 papers

NM_004653.5

p.R80K

c.239G>A

1 paper

NM_004653.5

p.K82E

c.244A>G

3 papers

NM_004653.5

p.D87G

c.260A>G

1 paper

NM_004653.5

p.E94K

c.280G>A

2 papers

NM_004653.5

p.G97A

c.290G>C

1 paper

NM_004653.5

p.R107Q

c.320G>A